Cryopyrin-associated periodic syndrome (patient information): Difference between revisions
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==Overview== | ==Overview== | ||
The cryopyrin-associated periodic syndrome consists of three separate diseases that occur due to a defect in the same gene. | The cryopyrin-associated periodic syndrome consists of three separate [[diseases]] that occur due to a defect in the same [[gene]]. | ||
==What are the Symptoms of cryopyrin-associated periodic syndrome?== | ==What are the Symptoms of cryopyrin-associated periodic syndrome?== | ||
*The symptoms depend on the severity and type of the disease. | *The symptoms depend on the severity and type of the disease. | ||
*Generally, disease severity increases from mild to severe in the following order: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome, neonatal-onset multisystem inflammatory disease (NOMID). | *Generally, [[disease]] severity increases from mild to severe in the following order: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome, neonatal-onset multisystem inflammatory disease (NOMID). | ||
*Common symptoms include: | *Common [[symptoms]] include: | ||
**Rash | **[[Rash]] | ||
**Periodic Fevers | **Periodic [[Fevers]] | ||
**Joint Pain | **[[Joint Pain]] | ||
** | **[[Headache]] | ||
**General | **General [[malaise]] | ||
**Conjunctivitis | **[[Conjunctivitis]] | ||
*FCAS specific symptom is a maculopapular, urticaria-like rash. | *FCAS specific [[symptom]] is a [[maculopapular]], urticaria-like [[rash]]. | ||
*Symptoms are triggered by cold or cooling temperatures. | *[[Symptoms]] are triggered by cold or cooling temperatures. | ||
==What Causes cryopyrin-associated periodic syndrome?== | ==What Causes cryopyrin-associated periodic syndrome?== | ||
*CAPS occurs due to a defect in a gene that is responsible for the production of cryopyrin. | *CAPS occurs due to a defect in a [[gene]] that is responsible for the production of cryopyrin. | ||
*Cryopyrin is a protein which plays an important role in controlling inflammation. | *Cryopyrin is a protein which plays an important role in controlling inflammation. | ||
==Who is at Highest Risk?== | ==Who is at Highest Risk?== | ||
*Since the disease is inherited in the autosomal dominant mode (meaning only one copy of the gene from one parent is needed to cause the disease), offsprings of parents with these diseases are at highest risk. | *Since the [[disease]] is inherited in the [[autosomal dominant]] mode (meaning only one copy of the [[gene]] from one parent is needed to cause the [[disease]]), offsprings of parents with these [[diseases]] are at highest risk. | ||
==Diagnosis== | ==Diagnosis== | ||
*Diagnosis is usually suspected according to the presence of symptoms. | *[[Diagnosis]] is usually suspected according to the presence of [[symptoms]]. | ||
*However, genetic analysis is necessary for the confirmation of the diagnosis. | *However, [[genetic analysis]] is necessary for the confirmation of the [[diagnosis]]. | ||
==When to Seek Urgent Medical Care?== | ==When to Seek Urgent Medical Care?== | ||
*Since this condition may lead to complications such as renal failure, seeking medical care after the confirmation of the diagnosis is recommended. | *Since this [[condition]] may lead to [[complications]] such as [[renal failure]], seeking medical care after the confirmation of the [[diagnosis]] is recommended. | ||
==Treatment Options== | ==Treatment Options== | ||
*Treatment options include: | *Treatment options include: | ||
**Biologic agents that target interleukin-1 (IL-1) | **Biologic agents that target [[interleukin-1]] (IL-1) | ||
*Treatment for joint deformities: | *Treatment for [[joint]] deformities: | ||
**Physical therapy | **[[Physical therapy]] | ||
**Splints | **[[Splints]] | ||
**surgery (less common) | **[[surgery]] (less common) | ||
*Symptomatic treatment: | *Symptomatic treatment: | ||
**Nonsteroidal anti-inflammatory drugs | **[[Nonsteroidal anti-inflammatory drugs]] | ||
**Corticosteroids | **[[Corticosteroids]] | ||
**Methotrexate | **[[Methotrexate]] | ||
==Where to find Medical Care for cryopyrin-associated periodic syndrome?== | ==Where to find Medical Care for cryopyrin-associated periodic syndrome?== | ||
*Medical care for cryopyrin-associated periodic syndrome can be found [https://www.google.com/maps/search/hospitals/ here]. | *Medical care for cryopyrin-associated periodic syndrome can be found [https://www.google.com/maps/search/hospitals/ here]. | ||
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*Prognosis is poor in the severe form of the disease. | *Prognosis is poor in the severe form of the disease. | ||
==Possible Complications== | ==Possible Complications== | ||
*Renal failure | *[[Renal failure]] | ||
*Hearing loss | *[[Hearing loss]] | ||
*Developmental delay (in NOMID) | *[[Developmental delay]] (in NOMID) | ||
==Sources== | ==Sources== | ||
http://www.nlm.nih.gov/medlineplus/ency/article/000434.htm | http://www.nlm.nih.gov/medlineplus/ency/article/000434.htm | ||
Latest revision as of 18:06, 15 July 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
The cryopyrin-associated periodic syndrome consists of three separate diseases that occur due to a defect in the same gene.
What are the Symptoms of cryopyrin-associated periodic syndrome?
- The symptoms depend on the severity and type of the disease.
- Generally, disease severity increases from mild to severe in the following order: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome, neonatal-onset multisystem inflammatory disease (NOMID).
- Common symptoms include:
- Rash
- Periodic Fevers
- Joint Pain
- Headache
- General malaise
- Conjunctivitis
- FCAS specific symptom is a maculopapular, urticaria-like rash.
- Symptoms are triggered by cold or cooling temperatures.
What Causes cryopyrin-associated periodic syndrome?
- CAPS occurs due to a defect in a gene that is responsible for the production of cryopyrin.
- Cryopyrin is a protein which plays an important role in controlling inflammation.
Who is at Highest Risk?
- Since the disease is inherited in the autosomal dominant mode (meaning only one copy of the gene from one parent is needed to cause the disease), offsprings of parents with these diseases are at highest risk.
Diagnosis
- Diagnosis is usually suspected according to the presence of symptoms.
- However, genetic analysis is necessary for the confirmation of the diagnosis.
When to Seek Urgent Medical Care?
- Since this condition may lead to complications such as renal failure, seeking medical care after the confirmation of the diagnosis is recommended.
Treatment Options
- Treatment options include:
- Biologic agents that target interleukin-1 (IL-1)
- Treatment for joint deformities:
- Physical therapy
- Splints
- surgery (less common)
- Symptomatic treatment:
Where to find Medical Care for cryopyrin-associated periodic syndrome?
- Medical care for cryopyrin-associated periodic syndrome can be found here.
Prevention
- There is no preventive method for the cryopyrin-associated periodic syndrome.
What to Expect (Outlook/Prognosis)?
- Prognosis is poor in the severe form of the disease.
Possible Complications
- Renal failure
- Hearing loss
- Developmental delay (in NOMID)